Canonical Allele Identifier: CA250522
Gene: CHST6 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.75479002A>G
GRCh37 chr16:g.75512900A>G
Revel Score:
ENST00000332272 (MANE Select) 0.904
ENST00000390664 0.904
gnomAD v2:
16:75512900 A / G
gnomAD v3:
16:75479002 A / G
gnomAD v4:
chr16-75479002-A-G
Joint Max Group AF 0.00006146 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000641 (NFE)
ClinVar RCV:
RCV000005383
ClinVar Variation:
5078
dbSNP:
121917824
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75479002A>G , CM000678.2:g.75479002A>G GRCh38
NC_000016.9:g.75512900A>G , CM000678.1:g.75512900A>G GRCh37
NC_000016.8:g.74070401A>G NCBI36
NG_016442.1:g.21027T>C
NG_016442.2:g.21440T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332272.9:c.827T>C MANE Select ENSP00000328983.4:p.Leu276Pro
ENST00000390664.3:c.827T>C ENSP00000375079.2:p.Leu276Pro
ENST00000649341.1:c.827T>C ENSP00000497635.1:p.Leu276Pro
ENST00000649824.1:c.827T>C ENSP00000496806.1:p.Leu276Pro
ENST00000332272.8:c.827T>C ENSP00000328983.4:p.Leu276Pro
ENST00000390664.2:c.827T>C ENSP00000375079.2:p.Leu276Pro
NM_021615.4:c.827T>C NP_067628.1:p.Leu276Pro
XM_005255955.3:c.827T>C XP_005256012.1:p.Leu276Pro
XM_011523085.1:c.827T>C XP_011521387.1:p.Leu276Pro
NM_021615.5:c.827T>C MANE Select NP_067628.1:p.Leu276Pro
XM_005255955.5:c.827T>C XP_005256012.1:p.Leu276Pro
XM_011523085.3:c.827T>C XP_011521387.1:p.Leu276Pro
NR_163480.1:n.733+2815T>C
NR_163481.1:n.577+2815T>C
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